Evaluating oxidative stress and inflammation in Gaucher disease

Novel Inflammatory Biomarkers Complement 5A and Hepcidin in Patients With Gaucher Disease (GD)

This study is testing how oxidative stress and inflammation affect adults with Gaucher disease type I by looking at blood samples taken over three months.

Quick facts

• Study type: Observational
• Enrollment: 34 (estimated)
• Ages: 18 Years to 75 Years
• Sex: All
• Sponsor: University of Minnesota (Academic / other)
• Locations: 1 site (Minneapolis, Minnesota)
• Trial ID: NCT02437396 on ClinicalTrials.gov

What this trial studies

This observational study aims to assess oxidative stress and inflammatory biomarkers in adult patients with Gaucher disease type I. Participants will provide blood samples during three visits over approximately three months, which will be analyzed using standardized immunoassay and LC/MS methods. The study will correlate these biomarkers with currently used diagnostic markers to better understand the disease's impact on oxidative stress and inflammation.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 and older with Gaucher disease type I who are stable on specific enzyme replacement therapy or substrate reduction therapy.

Not a fit: Patients with medically unstable conditions or those who have taken certain antioxidants prior to the study may not benefit.

Why it matters

Potential benefit: If successful, this study could enhance the understanding of Gaucher disease and lead to improved diagnostic and therapeutic strategies for patients.

How similar studies have performed: While this approach is focused on Gaucher disease, similar studies evaluating biomarkers in other conditions have shown promise, indicating potential for success.

Eligibility criteria

Inclusion criteria:

1. All participants must be 18 years or older.
2. All enrollees must understand and cooperate with requirements of the study in the opinion of the investigators and must be able to provide written informed consent.
3. Individuals with Gaucher disease who are medically stable for participation in study in the opinion of the investigator.
4. GD subjects must be stable on a specific ERT and/or SRT therapy at a specific dose (for e.g. on a units/kg basis) for at least 2 years or be naïve to these therapies (no therapy for 2 years).
5. GD1 patients, who have had a change in therapy i.e. a change in dose or switch from one drug to another, can be enrolled after at least 6 months have elapsed since the change and is considered stable in the opinion of the clinician providing care to the patient.
6. All participants must not have taken antioxidants coenzyme Q-10, vitamin C, or vitamin E for 3 weeks prior to the study.

Exclusion Criteria:

1. Medically unstable conditions in any group as determined by the investigators
2. Concurrent disease; medical condition; or an extenuating circumstance that, in the opinion of the investigator, might compromise subject safety, study compliance, completion of the study, or the integrity of the data collected for the study.
3. Females who are pregnant or lactating or of child-bearing age who are not using acceptable forms of contraception
4. History of asthma that is presently being treated
5. Subjects who cannot or are unwilling to have blood drawn
6. Unable to adhere to study protocol for whatever reason

Where this trial is running

Minneapolis, Minnesota

• University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)

Study contacts

• Principal investigator: Reena Kartha, PhD — University of Minnesota
• Study coordinator: Reena Kartha, PhD

Conditions Gaucher Disease Type I; Oxidative Stress; Inflammation